NPC1 c.604C>G ;(p.P202A)

Variant ID: 18-21141351-G-C

NM_000271.4(NPC1):c.604C>G;(p.P202A)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Exosome mimicry by a HAVCR1-NPC1 pathway of endosomal fusion mediates hepatitis A virus infection.

Nature Microbiology
Costafreda, Maria Isabel MI; Abbasi, Abdolrahim A; Lu, Hsinyi H; Kaplan, Gerardo G
Publication Date: 2020-09

Variant appearance in text: NPC1: P202A
PubMed Link: 32541946
Variant Present in the following documents:
  • Main text
  • nihms-1593998.pdf
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Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.

Frontiers In Molecular Biosciences
Favret, Jacob M JM; Weinstock, Nadav I NI; Feltri, M Laura ML; Shin, Daesung D
Publication Date: 2020

Variant appearance in text: NPC1: P202A
PubMed Link: 32351971
Variant Present in the following documents:
  • Main text
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Lysosomal cholesterol export reconstituted from fragments of Niemann-Pick C1.

Elife
Trinh, Michael Nguyen MN; Brown, Michael S MS; Seemann, Joachim J; Goldstein, Joseph L JL; Lu, Feiran F
Publication Date: 2018-07-26

Variant appearance in text: NPC1: P202A
PubMed Link: 30047864
Variant Present in the following documents:
  • Main text
  • elife-38564.pdf
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Triazoles inhibit cholesterol export from lysosomes by binding to NPC1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Trinh, Michael N MN; Lu, Feiran F; Li, Xiaochun X; Das, Akash A; Liang, Qiren Q; De Brabander, Jef K JK; Brown, Michael S MS; Goldstein, Joseph L JL
Publication Date: 2017-01-03

Variant appearance in text: NPC1: P202A
PubMed Link: 27994139
Variant Present in the following documents:
  • Main text
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Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

Cell
Gong, Xin X; Qian, Hongwu H; Zhou, Xinhui X; Wu, Jianping J; Wan, Tao T; Cao, Pingping P; Huang, Weiyun W; Zhao, Xin X; Wang, Xudong X; Wang, Peiyi P; Shi, Yi Y; Gao, George F GF; Zhou, Qiang Q; Yan, Nieng N
Publication Date: 2016-06-02

Variant appearance in text: NPC1: P202A
PubMed Link: 27238017
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
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Identification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infection.

Elife
Lu, Feiran F; Liang, Qiren Q; Abi-Mosleh, Lina L; Das, Akash A; De Brabander, Jef K JK; Goldstein, Joseph L JL; Brown, Michael S MS
Publication Date: 2015-12-08

Variant appearance in text: NPC1: P202A
PubMed Link: 26646182
Variant Present in the following documents:
  • Main text
  • elife-12177.pdf
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A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Praggastis, Maria M; Tortelli, Brett B; Zhang, Jessie J; Fujiwara, Hideji H; Sidhu, Rohini R; Chacko, Anita A; Chen, Zhouji Z; Chung, Chan C; Lieberman, Andrew P AP; Sikora, Jakub J; Davidson, Cristin C; Walkley, Steven U SU; Pipalia, Nina H NH; Maxfield, Frederick R FR; Schaffer, Jean E JE; Ory, Daniel S DS
Publication Date: 2015-05-27

Variant appearance in text: NPC1: P202A
PubMed Link: 26019327
Variant Present in the following documents:
  • Main text
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Scientific side trips: six excursions from the beaten path.

The Journal Of Biological Chemistry
Brown, Michael S MS; Goldstein, Joseph L JL
Publication Date: 2012-06-29

Variant appearance in text: NPC1: P202A
PubMed Link: 22584575
Variant Present in the following documents:
  • Main text
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Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Xie, Xuefen X; Brown, Michael S MS; Shelton, John M JM; Richardson, James A JA; Goldstein, Joseph L JL; Liang, Guosheng G
Publication Date: 2011-09-13

Variant appearance in text: NPC1: P202A
PubMed Link: 21896731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol.

Cell
Kwon, Hyock Joo HJ; Abi-Mosleh, Lina L; Wang, Michael L ML; Deisenhofer, Johann J; Goldstein, Joseph L JL; Brown, Michael S MS; Infante, Rodney E RE
Publication Date: 2009-06-26

Variant appearance in text: NPC1: P202A
PubMed Link: 19563754
Variant Present in the following documents:
  • Main text
View BVdb publication page